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Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
Mantripragada KK, Thuresson AC, Piotrowski A, Díaz de Ståhl T, Menzel U, Grigelionis G, Ferner RE, Griffiths S, Bolund L, Mautner V, Nordling M, Legius E, Vetrie D, Dahl N, Messiaen L, Upadhyaya M, Bruder CE, Dumanski JP. Mantripragada KK, et al. J Med Genet. 2006 Jan;43(1):28-38. doi: 10.1136/jmg.2005.033795. Epub 2005 Jun 8. J Med Genet. 2006. PMID: 15944227 Free PMC article.
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.
Buckley PG, Mantripragada KK, Díaz de Ståhl T, Piotrowski A, Hansson CM, Kiss H, Vetrie D, Ernberg IT, Nordenskjöld M, Bolund L, Sainio M, Rouleau GA, Niimura M, Wallace AJ, Evans DG, Grigelionis G, Menzel U, Dumanski JP. Buckley PG, et al. Among authors: mantripragada kk. Hum Mutat. 2005 Dec;26(6):540-9. doi: 10.1002/humu.20255. Hum Mutat. 2005. PMID: 16287142
High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas.
Díaz de Ståhl T, Hansson CM, de Bustos C, Mantripragada KK, Piotrowski A, Benetkiewicz M, Jarbo C, Wiklund L, Mathiesen T, Nyberg G, Collins VP, Evans DG, Ichimura K, Dumanski JP. Díaz de Ståhl T, et al. Among authors: mantripragada kk. Hum Genet. 2005 Oct;118(1):35-44. doi: 10.1007/s00439-005-0002-3. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16078050
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.
Kirov G, Grozeva D, Norton N, Ivanov D, Mantripragada KK, Holmans P; International Schizophrenia Consortium; Wellcome Trust Case Control Consortium; Craddock N, Owen MJ, O'Donovan MC. Kirov G, et al. Among authors: mantripragada kk. Hum Mol Genet. 2009 Apr 15;18(8):1497-503. doi: 10.1093/hmg/ddp043. Epub 2009 Jan 29. Hum Mol Genet. 2009. PMID: 19181681 Free PMC article.
74 results